Canonical Allele Identifier: CA394379730

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2110616G>T , CM000678.2:g.2110616G>T	GRCh38
NC_000016.9:g.2160617G>T , CM000678.1:g.2160617G>T	GRCh37
NC_000016.8:g.2100618G>T	NCBI36
NG_008617.1:g.30283C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.4551C>A MANE Select	NP_001009944.3:p.Tyr1517Ter
ENST00000262304.9:c.4551C>A MANE Select	ENSP00000262304.4:p.Tyr1517Ter
NM_000296.3:c.4551C>A	NP_000287.3:p.Tyr1517Ter
NM_000296.4:c.4551C>A	NP_000287.4:p.Tyr1517Ter
NM_001009944.2:c.4551C>A	NP_001009944.2:p.Tyr1517Ter
ENST00000262304.8:c.4551C>A	ENSP00000262304.4:p.Tyr1517Ter
ENST00000415938.7:n.310+1724C>A
ENST00000423118.5:c.4551C>A	ENSP00000399501.1:p.Tyr1517Ter
ENST00000468674.5:n.431-1266C>A
ENST00000483024.1:c.233+1200C>A
ENST00000483731.5:n.790+1724C>A
ENST00000488185.2:c.473-2258C>A
ENST00000565639.6:n.773+1724C>A
ENST00000568591.5:c.2226+1724C>A	ENSP00000457162.1:n.2226+1724C>A
ENST00000569983.5:n.421+1724C>A
XM_005255370.2:c.1506C>A	XP_005255427.1:p.Tyr502Ter
XM_005255370.3:c.1506C>A	XP_005255427.1:p.Tyr502Ter
XM_011522525.1:c.4629C>A	XP_011520827.1:p.Tyr1543Ter
XM_011522526.1:c.4629C>A	XP_011520828.1:p.Tyr1543Ter
XM_011522527.1:c.4629C>A	XP_011520829.1:p.Tyr1543Ter
XM_011522528.1:c.4605C>A	XP_011520830.1:p.Tyr1535Ter
XM_011522528.3:c.4605C>A	XP_011520830.1:p.Tyr1535Ter
XM_011522529.1:c.4605C>A	XP_011520831.1:p.Tyr1535Ter
XM_011522529.2:c.4605C>A	XP_011520831.1:p.Tyr1535Ter
XM_011522530.1:c.4575C>A	XP_011520832.1:p.Tyr1525Ter
XM_011522531.1:c.4557C>A	XP_011520833.1:p.Tyr1519Ter
XM_011522532.1:c.4503C>A	XP_011520834.1:p.Tyr1501Ter
XM_011522533.1:c.4422C>A	XP_011520835.1:p.Tyr1474Ter
XM_011522534.1:c.4365C>A	XP_011520836.1:p.Tyr1455Ter
XM_011522535.1:c.2451C>A	XP_011520837.1:p.Tyr817Ter
XM_011522536.1:c.4629C>A	XP_011520838.1:p.Tyr1543Ter
XM_011522537.1:c.1629C>A	XP_011520839.1:p.Tyr543Ter
XM_011522537.2:c.1629C>A	XP_011520839.1:p.Tyr543Ter
XM_024450298.1:c.4671C>A	XP_024306066.1:p.Tyr1557Ter
XM_024450299.1:c.4599C>A	XP_024306067.1:p.Tyr1533Ter
XM_024450300.1:c.4461C>A	XP_024306068.1:p.Tyr1487Ter
XM_024450301.1:c.2547C>A	XP_024306069.1:p.Tyr849Ter
XR_932867.1:n.4644C>A
XR_932868.1:n.4644C>A
XR_932869.1:n.4644C>A
XR_932870.1:n.4644C>A